Tommy's PWS Journey & essential treatment

Complications and worries began in the last few weeks of pregnancy with Tommy. Too much amniotic fluid, placenta working too hard, low fetal movements, and baby measuring small. Growth was being restricted and the chances of baby dying in utero could not be ignored. A decision was made for an early birth at 36 weeks via c-section. Baby would be safer out than in.

Tommy arrived at 12.39pm on the 20/12/22 weighing 5lb 3oz and all seemed well, it was such a relief, he was here and he was fine! I remember hearing comments about ‘how chilled’ he was several times and I was worried something mightn’t be quite right, but we were reassured he was fine. Around 30 minutes after we came out of the theatre, Tommy’s ‘tone’ was flagged up. He was floppy so his oxygen saturations were monitored, they were low, so it was decided he would be nipped off to NICU for an hour or so until they improved. Daniel went with Tommy (who was yet unnamed) and I went back to the ward without my baby.

Daniel sent me continual text updates as I was back on the ward on my own. Just minutes after having my baby. Our baby was cold, his blood sugars were low, he needed oxygen and a nasal feeding tube. An hour passed, then two, three, four, five, I couldn’t hold or even SEE my baby and my body was empty. Daniels's messages kept coming, more issues, more tests, neither of us had any clue what on earth was going on. As soon as I was able, Daniel came and took me to NICU to see our boy.

There he lay, tiny, with tubes and wires all over the place, on a monitor beep beeping. This couldn’t be real. One of the first interactions I had with the parent of the baby in the cot next door began, “So what’s wrong with yours?”

Choked up, holding back my tears, I replied “We don’t know.”

My world had caved in, none of this could be real, it was like an absolute nightmare. Surely soon I would wake up and I’d be cuddling my baby like I was supposed to be. A nurse asked me, “Do you see differences between him and your other babies?” My answer was yes, of course, he is premature and tiny, he is in NICU, I cannot feed him, I cannot hold him, he is connected by wires and under lights for jaundice, he has a little mask over his eyes, of course I see differences. What did she mean? Why was she saying this? What were we not being told?

Days went by and Tommy had lots of tests. Brain scans, brain MRI’s, genetic tests, cortisol tests - just a few I can remember but there were many more in the blur of those days. Some of the things Tommy was being tested for were life threatening, he wouldn’t live beyond his first birthday, others were degenerative. We were left second guessing every interaction, wondering if people knew more of what was wrong but were not telling us.

I was mentally preparing myself for the worst while Daniel held hope he was ‘just’ premature and with each passing day he would improve. Minutes felt like hours, time stood still. This baby laying in NICU was so frail, he didn’t ask for any of this. I felt like it was my fault; what had I done wrong for this to have happened? We didn’t know how long our baby was going to live for and if he did live how disabled he would be. It just didn’t seem fair on him, on his siblings, what would this mean for them? We were both in complete despair, heartbroken. Those days were really the darkest days of our lives.

After a two week agonising wait Tommy got his diagnosis of PWS or Prader Willi Syndrome.

this hit us like a freight train. How was this happening to us? How hard is this going to be? How is this fair? But in only minutes I had a feeling of relief, at least our boy isn’t going to die, he will live and he will walk and run and talk and have a happy childhood and life, he will be a playmate for his brother and he will smile and laugh and have friends and go to school. Daniel was extremely proactive and contacted the PWSA (The Prader Willi Syndrome Association) and told them of Tommy’s diagnosis, we had a reassuring phone call from the association a couple of days later and a home visit from Sheila, a lovely lady from the association just four days after the diagnosis. She spent time with us that day and offered us much needed support and advice.

Prader Willi is rare (1 in 15000) it is a lifelong neurodevelopment disorder that affects both mental and physical development.

What it means for Tommy is that he was born ‘floppy’ with low muscle tone. As a result he also had a weak suck so was fed through an ng tube in his nose. His breathing was affected and he was given a high chance of hip dysplasia and scoliosis. He will be delayed in meeting his milestones and we are to expect him to have mild to moderate learning difficulties.

In the future endocrinological issues will mean he requires growth hormones to be injected on a daily basis, he will likely need 6-8 hospital outpatient appointments a month along with a number of home visits. He will also be highly likely to need leg bracing and surgery.

Around the age of between 2 - 8 he will most likely develop Hyperphagia, the inability to ever feel full. He will live in a constant state of hunger and in a cruel twist his metabolism will be roughly half that of a normal person, meaning he will need only half the calories.

Why are we setting up a go fund me?

Meeting milestones e.g holding up his head, rolling over, sitting up, crawling and walking will be really difficult for Tommy. His low tone will make it very hard for him and he will get exhausted easily. Physiotherapy is the key to helping Tommy overcome these huge hurdles that our other babies learnt instinctively.

The NHS does provide physiotherapy but it has been brought to our attention that this may in fact not be enough. We have been made aware of a specialist centre in Oxford whose mission is to “improve quality of life for children with neurological conditions, enabling them to receive the intense physiotherapy they need”

There is also a world-renowned paediatric therapy centre in the U.S called the NAPA centre Dedicated to delivering innovative therapy services to children with a variety of neurological and developmental needs. They strive to provide children and families with hope by offering services in a playful environment enabling children to maximise their full developmental potential.

Intensive support has been proven to not only speed up results, the outcomes are better long term.

Luckily for us there is a NAPA centre opening in London in September 2023. It will be much more affordable than going all the way to America for Tommy's treatment but will still come at a cost.

It is painful typing this all out, knowing how much Tommy will struggle is terrifying and heartbreaking. Having to fundraise for care for your own child is alot to get your head around and I’ve really struggled with the concept, but his dad and I are determined to do the best we can for him. To be his biggest fans and provide him with everything he needs to reach his full potential.

We intend to raise money to pay for intense Physiotherapy courses to help support Tommy. Any donation that you would like to make will be most welcome and you will have our heartfelt thanks. We will keep you updated here with how the money raised will be used and you will always know our aims and intentions.

Our first fundraiser is for both Tommy and PWSA. On the 29th of April Daniel and I are going to be attempting the ‘Dare Skywalk’ at Tottenham Hotspur Stadium. Scaling the height of the stadium 46.8 metres above the football pitch, onto a glass walkway. (I am really quite scared of heights so this won’t be easy for me!)

We would like to raise £400 to be able to donate to PWSA as without them those first few weeks would have not been as hopeful. Any monies raised above this amount will be used to support Tommy with his physio.

Many people have asked how they can help. Perhaps if you were to run that marathon/ climb a mountain/ eat 100 picked onions you would consider fundraising for Tommy. There are so many things that will help Tommy and getting these at an early stage will make real life-changing differences.

Thank you for reading our story.

Dian, Daniel, Tommy and his family x

Here are some links if you would like to take a look at the places/organisations I have named

PWSA - https://www.pwsa.co.uk/

Footsteps - https://www.footstepscentre.com/

The napa centre - https://napacenter.org/